Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management
نویسندگان
چکیده
منابع مشابه
Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management
BACKGROUND Rubinstein-Taybi syndrome (RSTS) is an extremely rare autosomal dominant genetic disease, with an estimated prevalence of one case per 125,000 live births. RSTS is characterized by typical facial features, microcephaly, broad thumbs and first toes, intellectual disability, and postnatal growth retardation. However, no standard diagnostic criteria are available for RSTS. In this revie...
متن کاملNew dysmorphic features in Rubinstein-Taybi syndrome.
We report a new case of Rubinstein-Taybi syndrome with a hypoplastic right kidney, persistent pulmonary hypertension, and mitral valve regurgitation. Other pertinent features included broad thumbs, broad big toes, syndactyly of the third and fourth fingers bilaterally, beaked nose, broad columella of the nose, patent ductus arteriosus, and motor and mental retardation. The testes were descended...
متن کاملRubinstein Taybi syndrome.
Rubinstein Taybi syndrome or Broad Thumb and Hallux syndrome is a genetic multisystem disorder characterized by facial dysmorphism, growth retardation and mental deficiency. A ten-year-old boy who had come to the Department of Pedodontics, Ragas Dental College, Chennai, with the chief complaint of unaesthetic appearance with extra teeth revealed delay in the developmental milestones. The patien...
متن کاملManagement of Anesthesia for Rubinstein-Taybi syndrome
Corresponding author: Cheon-Hee Park, M.D., Department of Anesthesia and Pain Medicine, Gwangju Christian Hospital, 37, Yangnim-ro, Nam-gu, Gwangju 503-715, Korea. Tel: 82-62-650-5154, Fax: 82-62-650-5116, E-mail: [email protected] This is an open-access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http:// creativecommons.org/licenses/by-nc/3...
متن کاملThe Rubinstein-Taybi syndrome.
The Rubinstein-Taybi syndrome was first described in 1963. The main clinical features are mental retardation, broad thumbs and great toes, a characteristic facies, and a high-arched palate. Rubinstein and Taybi (1963) described 7 cases in the United States. Since then, small groups of patients and single examples of this syndrome have been reported in the United States (Coffin, 1964; Taybi and ...
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ژورنال
عنوان ژورنال: Italian Journal of Pediatrics
سال: 2015
ISSN: 1824-7288
DOI: 10.1186/s13052-015-0110-1